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Genetic Testing of Families With Hereditary Diseases

Alice Wexler, PhD
JAMA. 1996;276(14):1139-1140. doi:10.1001/jama.1996.03540140027018.
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To the Editor.  —For those of us concerned with predictive testing for Huntington disease (HD gene), it is gratifying to know that our experience has relevance for other diseases. However, the study of BRCA1 testing by Dr Lerman and colleagues1 considerably overstates the conclusions of a major 1992 Canadian study of HD gene testing by Wiggins et al.2 According to Lerman et al, "the prospective study found that testing had long-term psychological benefits—both for carriers and for noncarriers of HD gene mutations."Actually, the study by Wiggins et al2 is far more tentative in its conclusions, emphasizing the potential for benefits rather than benefits achieved, and acknowledging important qualifications. It concludes that predictive testing for the HD gene "may maintain or even improve the psychological well-being of many people at risk." The study also notes that predictive testing "appears to have improved" the psychological wellbeing "of many participants in the program."


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